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A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

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Figure 1: Mutation in the SF-1 DNA-binding domain.
Figure 2: Functional analyses of mutant SF-1.


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We thank G. Chrousos, M. Ramayya, K. Morohashi, C.G.D. Brook, E.J. Lee, R. Yu, L. Sabacan and T. Kotlar. J.C.A. acknowledges funding from the Special Trustees of the Middlesex Hospital and Endocrine Fellows Foundation. This work was performed as part of the National Cooperative Program for Infertility Research (NIH grant U54-HD-29164) and PO1 HD21921.

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Correspondence to J. Larry Jameson.

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Achermann, J., Ito, M., Ito, M. et al. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22, 125–126 (1999).

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